Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

MONDO:0009069

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

Also known as: COX deficiency, French-Canadian type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, cytochrome C oxidase deficiency, French-Canadian type, cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)

19 clinical trials for this condition and its sub-types, 0 tagged with Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Congenital nervous system disorder (287) ↑ Leigh syndrome (9)

Including sub-types (19) Tagged with Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.